Compound heterozygous variants of the FBXO7 gene resulting in infantile‐onset Parkinsonian‐pyramidal syndrome in siblings of a Chinese family

BACKGROUND: Mutations in the FBXO7 gene can cause a rare chromosomal recessive neurodegenerative disease, Parkinsonian‐pyramidal syndrome (PPS). Patients with this syndrome mainly show early‐onset Parkinson's syndrome. Here, we present a Chinese family with infantile‐onset PPS caused by FBXO7 m...

Descripción completa

Detalles Bibliográficos
Autores principales: Jin, Xiaohua, An, Lisha, Hao, Shengju, Liu, Qian, Zhang, Qinhua, Wang, Xing, Feng, Xuan, Zhang, Chuan, Cao, Xiaofang, Yan, Yousheng, Ma, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439341/
https://www.ncbi.nlm.nih.gov/pubmed/32274857
http://dx.doi.org/10.1002/jcla.23324

Ejemplares similares

Ejemplares similares